Advances in analytical models and applications for RFID, WSN and AmI systems

Experimentos llevados a cabo con el equipo de división de honor UCAM Volleyball Murcia.[SPA] Internet de las cosas (IoT) integra distintos elementos que actúan tanto como fuentes, como sumideros de información, a diferencia de la percepción que se ha tenido hasta ahora de Internet, centrado en las personas. Los avances en IoT engloban un amplio número de áreas y tecnologías, desde la adquisición de información hasta el desarrollo de nuevos protocolos y aplicaciones. Un concepto clave que subyace en el concepto de IoT, es el procesamiento de forma inteligente y autónoma de los flujos de información que se dispone. En este trabajo, estudiamos tres aspectos diferentes de IoT. En primer lugar, nos centraremos en la infraestructura de obtención de datos. Entre las diferentes tecnologías de obtención de datos disponibles en los sistemas IoT, la Identificación por Radio Frecuencia (RFID) es considerada como una de las tecnologías predominantes. RFID es la tecnología detrás de aplicaciones tales como control de acceso, seguimiento y rastreo de contenedores, gestión de archivos, clasificación de equipaje o localización de equipos. Con el auge de la tecnología RFID, muchas instalaciones empiezan a requerir la presencia de múltiples lectores RFID que operan próximos entre sí y conjuntamente. A estos escenarios se les conoce como dense reader environments (DREs). La coexistencia de varios lectores operando simultáneamente puede causar graves problemas de interferencias en el proceso de identificación. Uno de los aspectos claves a resolver en los RFID DREs consiste en lograr la coordinación entre los lectores. Estos problemas de coordinación son tratados en detalle en esta tesis doctoral. Además, dentro del área de obtención de datos relativa a IoT, las Redes de Sensores Inalámbricas (WSNs) desempeñan un papel fundamental. Durante la última década, las WSNs han sido estudiadas ampliamente de forma teórica, y la mayoría de problemas relacionados con la comunicación en este tipo de redes se han conseguido resolver de forma favorable. Sin embargo, con la implementación de WSNs en proyectos reales, han surgido nuevos problemas, siendo uno de ellos el desarrollo de estrategias realistas para desplegar las WSN. En este trabajo se estudian diferentes métodos que resuelven este problema, centrándonos en distintos criterios de optimización, y analizando las diferentes ventajas e inconvenientes que se producen al buscar una solución equilibrada. Por último, la Inteligencia Ambiental (AmI) forma parte del desarrollo de aplicaciones inteligentes en IoT. Hasta ahora, han sido las personas quienes han tenido que adaptarse al entorno, en cambio, AmI persigue crear entornos de obtención de datos capaces de anticipar y apoyar las acciones de las personas. AmI se está introduciendo progresivamente en diversos entornos reales tales como el sector de la educación y la salud, en viviendas, etc. En esta tesis se introduce un sistema AmI orientado al deporte que busca mejorar el entrenamiento de los atletas, siendo el objetivo prioritario el desarrollo de un asistente capaz de proporcionar órdenes de entrenamiento, basadas tanto en el entorno como en el rendimiento de los atletas. [ENG] Internet of Things (IoT) is being built upon many different elements acting as sources and sinks of information, rather than the previous human-centric Internet conception. Developments in IoT include a vast set of fields ranging from data sensing, to development of new protocols and applications. Indeed, a key concept underlying in the conception of IoT is the smart and autonomous processing of the new huge data flows available. In this work, we aim to study three different aspects within IoT. First, we will focus on the sensing infrastructure. Among the different kind of sensing technologies available to IoT systems, Radio Frequency Identification (RFID) is widely considered one of the leading technologies. RFID is the enabling technology behind applications such as access control, tracking and tracing of containers, file management, baggage sorting or equipment location. With the grow up of RFID, many facilities require multiple RFID readers usually operating close to each other. These are known as Dense Reader Environments (DREs). The co-existence of several readers operating concurrently is known to cause severe interferences on the identification process. One of the key aspects to solve in RFID DREs is achieving proper coordination among readers. This is the focus of the first part of this doctoral thesis. Unlike previous works based on heuristics, we address this problem through an optimization-based approach. The goal is identifying the maximum mean number of tags while network constraints are met. To be able to formulate these optimization problems, we have obtained analytically the mean number of identifications in a bounded -discrete or continuous- time period, an additional novel contribution of our work. Results show that our approach is overwhelmingly better than previous known methods. Along sensing technologies of IoT, Wireless Sensor Networks (WSNs) plays a fundamental role. WSNs have been largely and theoretically studied in the past decade, and many of their initial problems related to communication aspects have been successfully solved. However, with the adoption of WSNs in real-life projects, new issues have arisen, being one of them the development of realistic strategies to deploy WSNs. We have studied different ways of solving this aspect by focusing on different optimality criteria and evaluating the different trade-offs that occur when a balanced solution must be selected. On the one hand, deterministic placements subject to conflicting goals have been addressed. Results can be obtained in the form of Pareto-frontiers, allowing proper solution selection. On the other hand, a number of situations correspond to deployments were the nodes¿ position is inherently random. We have analyzed these situations leading first to a theoretical model, which later has been particularized to a Moon WSN survey. Our work is the first considering a full model with realistic properties such as 3D topography, propellant consumptions or network lifetime and mass limitations. Furthermore, development of smart applications within IoT is the focus of the Ambient Intelligence (AmI) field. Rather than having people adapting to the surrounding environment, AmI pursues the development of sensitive environments able to anticipate support in people¿s actions. AmI is progressively being introduced in many real-life environments like education, homes, health and so forth. In this thesis we develop a sport-oriented AmI system designed to improve athletes training. The goal is developing an assistant able to provide real-time training orders based on both environment and athletes¿ biometry, which is aimed to control the aerobic and the technical-tactical training. Validation experiments with the honor league UCAM Volleyball Murcia team have shown the suitability of this approach.[ENG] Internet of Things (IoT) is being built upon many different elements acting as sources and sinks of information, rather than the previous human-centric Internet conception. Developments in IoT include a vast set of fields ranging from data sensing, to development of new protocols and applications. Indeed, a key concept underlying in the conception of IoT is the smart and autonomous processing of the new huge data flows available. In this work, we aim to study three different aspects within IoT. First, we will focus on the sensing infrastructure. Among the different kind of sensing technologies available to IoT systems, Radio Frequency Identification (RFID) is widely considered one of the leading technologies. RFID is the enabling technology behind applications such as access control, tracking and tracing of containers, file management, baggage sorting or equipment location. With the grow up of RFID, many facilities require multiple RFID readers usually operating close to each other. These are known as Dense Reader Environments (DREs). The co-existence of several readers operating concurrently is known to cause severe interferences on the identification process. One of the key aspects to solve in RFID DREs is achieving proper coordination among readers. This is the focus of the first part of this doctoral thesis. Unlike previous works based on heuristics, we address this problem through an optimization-based approach. The goal is identifying the maximum mean number of tags while network constraints are met. To be able to formulate these optimization problems, we have obtained analytically the mean number of identifications in a bounded -discrete or continuous- time period, an additional novel contribution of our work. Results show that our approach is overwhelmingly better than previous known methods. Along sensing technologies of IoT, Wireless Sensor Networks (WSNs) plays a fundamental role. WSNs have been largely and theoretically studied in the past decade, and many of their initial problems related to communication aspects have been successfully solved. However, with the adoption of WSNs in real-life projects, new issues have arisen, being one of them the development of realistic strategies to deploy WSNs. We have studied different ways of solving this aspect by focusing on different optimality criteria and evaluating the different trade-offs that occur when a balanced solution must be selected. On the one hand, deterministic placements subject to conflicting goals have been addressed. Results can be obtained in the form of Pareto-frontiers, allowing proper solution selection. On the other hand, a number of situations correspond to deployments were the nodes¿ position is inherently random. We have analyzed these situations leading first to a theoretical model, which later has been particularized to a Moon WSN survey. Our work is the first considering a full model with realistic properties such as 3D topography, propellant consumptions or network lifetime and mass limitations. Furthermore, development of smart applications within IoT is the focus of the Ambient Intelligence (AmI) field. Rather than having people adapting to the surrounding environment, AmI pursues the development of sensitive environments able to anticipate support in people¿s actions. AmI is progressively being introduced in many real-life environments like education, homes, health and so forth. In this thesis we develop a sport-oriented AmI system designed to improve athletes training. The goal is developing an assistant able to provide real-time training orders based on both environment and athletes¿ biometry, which is aimed to control the aerobic and the technical-tactical training. Validation experiments with the honor league UCAM Volleyball Murcia team have shown the suitability of this approach.Universidad Politécnica de CartagenaPrograma de doctorado en Tecnología de la Información y de las Comunicacione

Accurate,robust and harmonized implementation of morpho-functional imaging in treatment planning for personalized radiotherapy

In this work we present a methodology able to use harmonized PET/CT imaging in dose painting by number (DPBN) approach by means of a robust and accurate treatment planning system. Image processing and treatment planning were performed by using a Matlab-based platform, called CARMEN, in which a full Monte Carlo simulation is included. Linear programming formulation was developed for a voxel-by-voxel robust optimization and a specific direct aperture optimization was designed for an efficient adaptive radiotherapy implementation. DPBN approach with our methodology was tested to reduce the uncertainties associated with both, the absolute value and the relative value of the information in the functional image. For the same H&N case, a single robust treatment was planned for dose prescription maps corresponding to standardized uptake value distributions from two different image reconstruction protocols: One to fulfill EARL accreditation for harmonization of [18F]FDG PET/CT image, and the other one to use the highest available spatial resolution. Also, a robust treatment was planned to fulfill dose prescription maps corresponding to both approaches, the dose painting by contour based on volumes and our voxel-by-voxel DPBN. Adaptive planning was also carried out to check the suitability of our proposal. Different plans showed robustness to cover a range of scenarios for implementation of harmonizing strategies by using the highest available resolution. Also, robustness associated to discretization level of dose prescription according to the use of contours or numbers was achieved. All plans showed excellent quality index histogram and quality factors below 2%. Efficient solution for adaptive radiotherapy based directly on changes in functional image was obtained. We proved that by using voxel-by-voxel DPBN approach it is possible to overcome typical drawbacks linked to PET/CT images, providing to the clinical specialist confidence enough for routinely implementation of functional imaging for personalized radiotherapy.Junta de Andalucía (FISEVI, reference project CTS 2482)European Regional Development Fund (FEDER

Acoustic Sensor Planning for Gunshot Location in National Parks: A Pareto Front Approach

In this paper, we propose a solution for gunshot location in national parks. In Spain there are agencies such as SEPRONA that fight against poaching with considerable success. The DiANa project, which is endorsed by Cabaneros National Park and the SEPRONA service, proposes a system to automatically detect and locate gunshots. This work presents its technical aspects related to network design and planning. The system consists of a network of acoustic sensors that locate gunshots by hyperbolic multi-lateration estimation. The differences in sound time arrivals allow the computation of a low error estimator of gunshot location. The accuracy of this method depends on tight sensor clock synchronization, which an ad-hoc time synchronization protocol provides. On the other hand, since the areas under surveillance are wide, and electric power is scarce, it is necessary to maximize detection coverage and minimize system cost at the same time. Therefore, sensor network planning has two targets, i.e., coverage and cost. We model planning as an unconstrained problem with two objective functions. We determine a set of candidate solutions of interest by combining a derivative-free descent method we have recently proposed with a Pareto front approach. The results are clearly superior to random seeding in a realistic simulation scenario

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

[Objective] We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.[Methods] A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed.[Results] Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively.[Conclusions] There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.This work was supported by the Carlos III Health Institute-European Regional Development Fund (ISCIII-FEDER) [PI14/01823, PI16/01575, PI18/01898, PI19/01576], the Andalusian Regional Ministry of Economics, Innovation, Science and Employment [CVI-02526, CTS-7685], the Andalusian Regional Ministry of Health and Welfare [PI-0741-2010, PI-0471-2013, PE-0210-2018, PI-0459-2018, PE-0186-2019], and the Alicia Koplowitz and Mutua Madrileña Foundations. Pilar Gómez-Garre was supported by the "Miguel Servet" program [MSII14/00018] (from ISCIII-FEDER) and “Nicolás Monardes” program [C-0048-2017] (from the Andalusian Regional Ministry of Health). Silvia Jesús was supported by the "Juan Rodés" program [B-0007-2019] and Daniel Macías-García by the “Río Hortega” program [CM18/00142] (both from ISCIII-FEDER). María Teresa Periñán was supported by the Spanish Ministry of Education [FPU16/05061]. Cristina Tejera was supported by VPPI-US from the University of Seville.Peer reviewe

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)

Vocabulario de la sociedad civil, la ruralidad y los movimientos sociales en América Latina

El Vocabulario de la Sociedad Civil, la Ruralidad y los Movimientos Sociales en América Latina tiene como objetivo desarrollar vocablos relacionados con temas de gran trascendencia para la vida colectiva de la población Latinoamericana; pretende introducir a estudiantes, personas del ámbito académico y activistas en la comprensión de estas categorías de análisis. A través de la mirada de 70 especialistas que participaron en este vocabulario, es posible comprender muchos de los términos que se utilizan dentro de la investigación social y áreas relacionadas con las ciencias políticas, ambientales y rurales, a partir de una mayor explicación y detalle. Es por ello que se inserta este trabajo desde una mirada colectiva y amplia de los conceptos que se exponen. En este libro podrá encontrar las ideas de varios autores y autoras de distintas universidades, con una visión multi, inter y transdisciplinaria. El esfuerzo que se realizó para conjuntar varios términos y analizar su compleja red de interpretaciones, permitirá que este manuscrito pueda ser consultado por estudiantes, personas del ámbito científico-académico, y ciudadanía; porque contiene el estado del arte, la historia del paulatino avance de múltiples conceptos y su vigencia en el contexto actual

Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD. Objective To investigate what genes and genomic processes underlie the risk of sporadic PD. Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks. Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role. Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance. Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies

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